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1
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.异染性脑白质营养不良家族健康成员白细胞中芳基硫酸酯酶A和脑苷脂硫酸酯酶活性极低。
Am J Hum Genet. 1977 Mar;29(2):191-4.
2
Discussion: Metachromatic leukodystrophy, an unusual case with a subtle cerebroside sulfatase defect.讨论：异染性脑白质营养不良，一例伴有轻微脑苷脂硫酸酯酶缺陷的罕见病例。
UCLA Forum Med Sci. 1975(18):501-6. doi: 10.1016/b978-0-12-139050-1.50036-7.
3
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.患有无异染性脑白质营养不良的“假性”芳基硫酸酯酶A缺乏症的同胞成纤维细胞中硫酸脑苷脂水解受损。
Pediatr Res. 1983 Sep;17(9):701-4. doi: 10.1203/00006450-198309000-00001.
4
Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.一个具有假性芳基硫酸酯酶A缺乏特征但无异染性脑白质营养不良的家族中的基因型分型
Pediatr Res. 1984 Oct;18(10):1021-2. doi: 10.1203/00006450-198410000-00022.
5
Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.白细胞中的芳基硫酸酯酶A和B：晚期婴儿型和青少年型异染性脑白质营养不良及对照的比较统计研究
Biomedicine. 1980 Feb;33(1):2-4.
6
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.由部分脑苷脂硫酸酯酶引起的异染性脑白质营养不良。
Clin Genet. 1982 Apr;21(4):253-61. doi: 10.1111/j.1399-0004.1982.tb00759.x.
7
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.脑苷脂硫酸酯酶激活剂缺乏症和异染性脑白质营养不良成纤维细胞的体细胞杂种中的基因互补。
Hum Genet. 1984;66(4):300-1. doi: 10.1007/BF00287632.
8
Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.一个丹麦家族中的异染性脑白质营养不良和假性芳基硫酸酯酶A缺乏症
Acta Paediatr Scand. 1983 Mar;72(2):175-8. doi: 10.1111/j.1651-2227.1983.tb09692.x.
9
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.基于DNA的芳基硫酸酯酶A缺乏症诊断作为酶测定的补充：一个实例
Clin Biochem. 1997 Feb;30(1):57-61. doi: 10.1016/s0009-9120(96)00124-5.
10
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.脑苷脂硫酸酯酶激活剂缺乏导致异染性脑白质营养不良。
Am J Hum Genet. 1981 Nov;33(6):900-6.

引用本文的文献

1
Cross-species efficacy of AAV-mediated ARSA replacement for Metachromatic Leukodystrophy.腺相关病毒介导的芳基硫酸酯酶A替代疗法对异染性脑白质营养不良的跨物种疗效
J Clin Invest. 2025 Jun 19;135(16). doi: 10.1172/JCI185001.
2
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.极低的芳基硫酸酯酶A酶活性不一定会引发症状：一项长期随访及文献综述
JIMD Rep. 2022 May 4;63(4):292-302. doi: 10.1002/jmd2.12293. eCollection 2022 Jul.
3
Lysosomal storage diseases.溶酶体贮积症
Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005.
4
Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.直接串联质谱分析干燥尿液样本中的硫酸脂，用于筛查黏脂贮积症。
Clin Chim Acta. 2013 Oct 21;425:153-9. doi: 10.1016/j.cca.2013.06.027. Epub 2013 Jul 6.
5
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.鉴定和表征用于纠正溶酶体贮积症中酶缺陷的药理学伴侣分子。
Assay Drug Dev Technol. 2011 Jun;9(3):213-35. doi: 10.1089/adt.2011.0370.
6
Molecular genetics of metachromatic leukodystrophy.异染性脑白质营养不良的分子遗传学
J Inherit Metab Dis. 1994;17(4):500-9. doi: 10.1007/BF00711364.
7
"Pseudodeficiencies" of lysosomal hydrolases.溶酶体水解酶的“假性缺陷”
Am J Hum Genet. 1994 Jun;54(6):934-40.
8
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.在脂肪酸标记的硫酸脑苷脂被培养的皮肤成纤维细胞摄取后，对异染性脑白质营养不良、克拉伯病和法伯病进行诊断。
J Clin Invest. 1982 Jul;70(1):89-97. doi: 10.1172/jci110607.
9
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.健康个体中的假性芳基硫酸酯酶A缺乏症：与异染性脑白质营养不良的遗传和生化关系。
Proc Natl Acad Sci U S A. 1983 Dec;80(23):7323-7. doi: 10.1073/pnas.80.23.7323.
10
[Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses].[9例神经脂质沉积症产前诊断后胎儿的超微结构研究结果]
Arch Psychiatr Nervenkr (1970). 1982;232(5):407-26. doi: 10.1007/BF00345597.

本文引用的文献

1
Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).异染性脑白质营养不良（ML）中的脑苷脂硫酸酯酶和芳基硫酸酯酶A缺乏症。
J Neurochem. 1969 Jan;16(1):19-28. doi: 10.1111/j.1471-4159.1969.tb10339.x.
2
Metachromatic leukodystrophy: diagnosis with samples of venous blood.异染性脑白质营养不良：通过静脉血样本进行诊断
Science. 1968 Aug 9;161(3841):594-5. doi: 10.1126/science.161.3841.594.
3
Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.一名健康女性体内缺乏β-N-乙酰氨基己糖苷酶A活性。
Am J Hum Genet. 1973 Jul;25(4):372-81.
4
Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.患有泰-萨克斯病的家族中健康成员出现氨基己糖苷酶A明显缺乏的情况。
Am J Hum Genet. 1973 May;25(3):287-93.
5
[Use of electrophoresis for the detection of metachromatic leukodystrophy from human leukocytes].[利用电泳法检测人白细胞中的异染性脑白质营养不良]
C R Acad Hebd Seances Acad Sci D. 1974 Mar 4;278(10):1401-3.
6
Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy.信件：患有异染性脑白质营养不良患者的健康父亲体内缺乏ASA活性。
N Engl J Med. 1975 Aug 7;293(6):302. doi: 10.1056/nejm197508072930613.
7
Absence of hexosaminidase A and B in a normal adult.
N Engl J Med. 1975 Jan 9;292(2):61-3. doi: 10.1056/NEJM197501092920201.
8
Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.异染性脑白质营养不良中的芳基硫酸酯酶同工酶/通过电泳改进定量测定法检测一种新变体
Biomedicine. 1975 Apr 10;23(3):116-9.

异染性脑白质营养不良家族健康成员白细胞中芳基硫酸酯酶A和脑苷脂硫酸酯酶活性极低。

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

作者信息

Dubois G, Harzer K, Baumann N

出版信息

Am J Hum Genet. 1977 Mar;29(2):191-4.

PMID:15452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685259/
Abstract

Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.

摘要

在一个异染性脑白质营养不良（MLD）家族的健康成员白细胞中发现了极低水平的芳基硫酸酯酶A（ASA）。同一批个体中的脑硫脂硫酸酯酶（CSS）活性约为对照水平的10%。文中提出了支持存在与经典MLD不同的显性突变的论据。本报告强化了这两种酶活性之间的关系。